Phenotypes associated with this allele

• Allele Symbol: Npr3^tm1Unc
• Allele Name: targeted mutation 1, University of North Carolina
• Allele ID: MGI:2158355
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Npr3^tm1Unc/Npr3^tm1Unc	B6.129-Npr3^tm1Unc	MGI:6104238
hm2	Npr3^tm1Unc/Npr3^tm1Unc	involves: 129 * C57BL/6	MGI:3623588
ht3	Npr3^tm1Unc/Npr3^+	involves: 129 * C57BL/6	MGI:3623607

Genotype
MGI:6104238

hm1

• Allelic Composition: Npr3^tm1Unc/Npr3^tm1Unc
• Genetic Background: B6.129-Npr3^tm1Unc

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

adipose tissue

decreased brown fat cell lipid droplet size ( J:184488 )

• in interscapular fat

decreased white fat cell size ( J:184488 )

• in epididymal white adipose tissue

decreased epididymal fat pad weight ( J:184488 )

decreased inguinal fat pad weight ( J:184488 )

decreased retroperitoneal fat pad weight ( J:184488 )

abnormal interscapular fat pad morphology ( J:184488 )

• no superficial white adipose tissue and a deeper reddish-brown tint and reduced lipid droplets

decreased interscapular fat pad weight ( J:184488 )

• primary adipocytes exhibit elevated glycerol release in response to atrial natriuretic peptides unlike wild-type cells

Genotype
MGI:3623588

hm2

• Allelic Composition: Npr3^tm1Unc/Npr3^tm1Unc
• Genetic Background: involves: 129 * C57BL/6

Skeletal phenotypes of Npr3^tm1Unc/Npr3^tm1Unc mice

mortality/aging

postnatal lethality, incomplete penetrance ( J:56058 )

• homozygotes develop to term; however, about 50% die before weaning

hematopoietic system

increased erythrocyte cell number ( J:56058 )

• homozygotes display progressively increased red blood cell counts relative to wild-type mice (10.4 0.1 10⁶/mm³ vs 9.7 0.1 10⁶/mm³, respectively)

increased hematocrit ( J:56058 )

• homozygotes display progressively increased hematocrits relative to wild-type mice (53.6 0.9 vs 49.9 1.0, respectively)

increased hemoglobin content ( J:56058 )

• homozygotes display progressively increased hemoglobin levels relative to wild-type mice (16.7 0.2 g/dl vs 15.6 0.2 g/dl, respectively)

abnormal osteoclast morphology ( J:56058 )

• the number and size of osteoclasts in cultures of bone marrow cells from 2-month-old homozygotes are ~2x that of wild-type

homeostasis/metabolism

abnormal blood homeostasis ( J:56058 )

• in homozygotes, the half life of [125I]ANP in circulation is two-thirds longer than in wild-type mice, although plasma levels of both atrial and B-type natriuretic peptides (ANP and BNP) remain relatively unaffected

increased circulating alkaline phosphatase level ( J:56058 )

• at 2 months, homozygotes exhibit a 150% increase in plasma alkaline phosphatase levels relative to wild-type mice

dehydration ( J:56058 )

• homozygotes appear dehydrated shortly after birth

abnormal urine nucleotide level ( J:56058 )

• homozygotes exhibit a >300% increase in total daily excretion of cGMP in the urine relative to wild-type mice

decreased urine osmolality ( J:56058 )

• homozygotes can excrete dilute urine after water loading but are progressively and significantly less able than wild-type mice to concentrate urine; however, no shortening of the renal papilla is observed

cardiovascular system

hypovolemia ( J:56058 )

• homozygotes exhibit reduced intravascular blood volume relative to wild-type mice

hypotension ( J:56058 )

• in homozygotes, blood pressures are reduced by 8 mmHg relative to wild-type mice (110.4 2.3 mmHg vs 118.7 1.9 mmHg, respectively)

renal/urinary system

abnormal urine nucleotide level ( J:56058 )

• homozygotes exhibit a >300% increase in total daily excretion of cGMP in the urine relative to wild-type mice

decreased urine osmolality ( J:56058 )

• homozygotes can excrete dilute urine after water loading but are progressively and significantly less able than wild-type mice to concentrate urine; however, no shortening of the renal papilla is observed

polyuria ( J:56058 )

• homozygotes exhibit no significant differences in plasma Na⁺, K⁺, Ca²⁺, Cl^-, creatinine, and urea nitrogen concentrations or in daily urinary excretion of Na⁺, K⁺, Cl^-, creatinine, or protein relative to wild-type mice

• however, homozygotes display a mild progressive increase in total daily urine output relative to wild-type littermates

behavior/neurological

polydipsia ( J:56058 )

• homozygotes tend to display a progressive increase in water intake

hunched posture ( J:56058 )

• at P7, homozygotes display hunched backs

growth/size/body

decreased body weight ( J:56058 )

• at P7, homozygotes display decreased body weight relative to wild-type mice

increased body length ( J:56058 )

• at P7, homozygotes display increased body length relative to wild-type mice

skeleton

domed cranium ( J:56058 )

• at P7, homozygotes display dome-shaped skulls

abnormal osteoclast morphology ( J:56058 )

• the number and size of osteoclasts in cultures of bone marrow cells from 2-month-old homozygotes are ~2x that of wild-type

increased length of long bones ( J:56058 )

• at P7, homozygotes display elongated femurs and tibias relative to wild-type mice

elongated metatarsal bones ( J:56058 )

• at P7, homozygotes display elongated metatarsal and digital bones relative to wild-type mice

small thoracic cage ( J:56058 )

• adult homozygotes exhibit small thoracic cages relative to wild-type mice

elongated vertebral body ( J:56058 )

• at P7, homozygotes display longer vertebral bodies than wild-type mice

increased osteoblast cell number ( J:56058 )

• the number of osteoblastic precursors from 2-month-old homozygotes is ~3 that of wild-type, and they proliferate almost twice as rapidly

abnormal bone trabecula morphology ( J:56058 )

• in young homozygotes, bony trabeculae appear thicker and longer than normal

abnormal skeleton development ( J:56058 )

abnormal long bone epiphyseal plate proliferative zone ( J:56058 )

• at P10, cellular expansion is apparent in the zone of hypertrophic chondrocytes but not in the zones with resting or proliferating chondrocytes; however, this difference is no longer observed at 3 months

delayed bone ossification ( J:56058 )

• at P10, homozygotes display delayed development of secondary ossification centers in their long bones

abnormal bone remodeling ( J:56058 )

• at 2 months, homozygotes (but not heterozygotes) exhibit increased bone turnover, as shown by a 150% increase in plasma alkaline phosphatase (an indicator of bone formation) and a >200% increase in urinary pyridonoline and deoxypyridonoline (indicators of bone resorption)

craniofacial

domed cranium ( J:56058 )

• at P7, homozygotes display dome-shaped skulls

limbs/digits/tail

elongated metatarsal bones ( J:56058 )

• at P7, homozygotes display elongated metatarsal and digital bones relative to wild-type mice

long tail ( J:56058 )

• at P7, homozygotes exhibit elongated tails that, in some mice, appear initially wavy

reproductive system

reduced fertility ( J:56058 )

• only one third of surviving homozygotes reproduce at least once

immune system

abnormal osteoclast morphology ( J:56058 )

• the number and size of osteoclasts in cultures of bone marrow cells from 2-month-old homozygotes are ~2x that of wild-type

Genotype
MGI:3623607

ht3

• Allelic Composition: Npr3^tm1Unc/Npr3⁺
• Genetic Background: involves: 129 * C57BL/6

hematopoietic system

increased erythrocyte cell number ( J:56058 )

• heterozygotes display progressively increased red blood cell counts relative to wild-type mice (10.1 0.3 10⁶/mm³ vs 9.7 0.1 10⁶/mm³, respectively)

increased hematocrit ( J:56058 )

• heterozygotes display progressively increased hematocrits relative to wild-type mice (51.8 0.9 vs 49.9 1.0, respectively)

increased hemoglobin content ( J:56058 )

• heterozygotes display progressively increased hemoglobin levels relative to wild-type mice (16.2 0.2 g/dl vs 15.6 0.2 g/dl, respectively)

homeostasis/metabolism

abnormal urine nucleotide level ( J:56058 )

• homozygotes exhibit a >200% increase in total daily excretion of cGMP in the urine relative to wild-type mice

decreased urine osmolality ( J:56058 )

• heterozygotes can excrete dilute urine after water loading but become progressively and significantly less able to concentrate urine relative to wild-type mice

cardiovascular system

hypovolemia ( J:56058 )

• heterozygotes exhibit reduced intravascular blood volume; however, no reduction in blood pressure is observed relative to wild-type mice

renal/urinary system

abnormal urine nucleotide level ( J:56058 )

• homozygotes exhibit a >200% increase in total daily excretion of cGMP in the urine relative to wild-type mice

decreased urine osmolality ( J:56058 )

• heterozygotes can excrete dilute urine after water loading but become progressively and significantly less able to concentrate urine relative to wild-type mice

polyuria ( J:56058 )

• similar to homozygotes, heterozygotes show a mild progressive increase in total daily urine output relative to wild-type littermates